Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
J Neuropathol Exp Neurol. 2024 Apr 19;83(5):331-337. doi: 10.1093/jnen/nlae025.
Medical autopsies have decreased in frequency due in part to advances in radiological techniques and increased availability of molecular and other ancillary testing. However, premortem diagnosis of CNS disease remains challenging; while ∼90% of brain tumor biopsies are diagnostic, only 20%-70% of biopsies for presumed nonneoplastic disease result in a specific diagnosis. The added benefits of performing an autopsy following surgical brain biopsy are not well defined. A retrospective analysis was performed of patients who underwent brain biopsy and autopsy at Brigham and Women's Hospital from 2003 to 2022. A total of 135 cases were identified, including 95 (70%) patients with primary CNS neoplasms, 16 (12%) with metastatic tumors, and 24 (18%) with nonneoplastic neurological disease. Diagnostic concordance between biopsy and autopsy diagnosis was excellent both for primary CNS neoplasms (98%) and metastatic tumors (94%). Conversely, patients with nonneoplastic disease received definitive premortem diagnoses in 7/24 (29%) cases. Five (21%) additional patients received conclusive diagnoses following autopsy; 8 (33%) received a more specific differential diagnosis compared to the biopsy. Overall, autopsy confirmed premortem diagnoses or provided new diagnostic information in 131/135 (97%) cases, highlighting the value in performing postmortem brain examination in patients with both neoplastic and nonneoplastic diseases.
由于放射学技术的进步和分子及其他辅助检测的广泛应用，医学解剖的频率有所降低。然而，中枢神经系统疾病的生前诊断仍然具有挑战性；虽然约 90%的脑肿瘤活检具有诊断意义，但假定为非肿瘤性疾病的活检中，仅有 20%-70%能明确诊断。在外科脑活检后进行尸检的额外获益尚未明确界定。我们对 2003 年至 2022 年在布莱根妇女医院接受脑活检和尸检的患者进行了回顾性分析。共确定了 135 例病例，包括 95 例（70%）原发性中枢神经系统肿瘤患者、16 例（12%）转移性肿瘤患者和 24 例（18%）非肿瘤性神经疾病患者。活检和尸检诊断的一致性对于原发性中枢神经系统肿瘤（98%）和转移性肿瘤（94%）均非常好。相反，24 例非肿瘤性疾病患者中，有 7 例（29%）在生前获得明确诊断。5 例（21%）患者在尸检后获得明确诊断；8 例（33%）与活检相比，获得了更具体的鉴别诊断。总体而言，尸检在 131/135 例（97%）病例中证实了生前诊断或提供了新的诊断信息，突出了对患有肿瘤性和非肿瘤性疾病的患者进行死后脑检查的价值。
